Results 121 to 130 of about 302,141 (331)

Blocking Zika virus vertical transmission. [PDF]

open access: yes, 2018
The outbreak of the Zika virus (ZIKV) has been associated with increased incidence of congenital malformations. Although recent efforts have focused on vaccine development, treatments for infected individuals are needed urgently. Sofosbuvir (SOF), an FDA-
Beltrão-Braga, Patricia CB   +23 more
core   +2 more sources

Congenital cytomegalovirus infection treated with idoxuridine. [PDF]

open access: bronze, 1968
AlanF. Conchie   +2 more
openalex   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear   +16 more
wiley   +1 more source

Characteristics and serology of pregnant women with cytomegalovirus immunoglobulin G seroconversion during pregnancy in Japan

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2021
Objective: Investigate the characteristics and serology of pregnant women with cytomegalovirus (CMV) immunoglobulin (Ig)G seroconversion during pregnancy to understand the risk factors associated with primary CMV infection and the occurrence of fetal ...
Kyoko Shimada   +8 more
doaj  

Genetic Variation in NFKBIE Is Associated With Increased Risk of Pneumococcal Meningitis in Children

open access: yesEBioMedicine, 2016
Background: Streptococcus pneumoniae and Neisseria meningitidis are frequent pathogens in life-threatening infections. Genetic variation in the immune system may predispose to these infections.
Lene F. Lundbo   +8 more
doaj   +1 more source

Non-coding RNAs identification and regulatory networks in pathogen-host interaction in the microsporidia congenital infection. [PDF]

open access: yesBMC Genomics, 2023
Shen Z   +12 more
europepmc   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

Congenital Rubella Infection of a Human Embryo [PDF]

open access: bronze, 1964
H. E. M. Kay   +4 more
openalex   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher   +6 more
wiley   +1 more source

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